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Updated: Jun 21, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

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:亨廷顿病的一个生物标志物

Eva Lepinay1,2, Francesca Cicchetti3,4

  • 1Centre de Recherche du CHU de Québec, Axe Neurosciences, Québec, QC, Canada.

Molecular psychiatry
|September 25, 2023
PubMed
概括

调查陶蛋白水平可能为亨廷顿病 (HD) 提供新的诊断和预后生物标志物. 研究表明,与其他神经退行性疾病中的认知功能有关,可能有助于HD治疗疗效.

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相关概念视频

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...